ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter)

gnomAD frequency: 0.00002  dbSNP: rs750126005
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687297 SCV000814856 pathogenic Majeed syndrome 2024-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg197*) in the LPIN2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LPIN2 are known to be pathogenic (PMID: 15994876, 23087183). This variant is present in population databases (rs750126005, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 567272). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000687297 SCV002809570 likely pathogenic Majeed syndrome 2022-04-18 criteria provided, single submitter clinical testing

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